Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA249263593

Gene: HTR2A HGNC NCBI

Linked Data

dbSNP Id: rs978439305

gnomAD v3: 13-46897380-G-A

gnomAD v4: 13-46897380-G-A

MyVariant Identifiers: chr13:g.47471515G>A (hg19) chr13:g.46897380G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46897380G>A , CM000675.2:g.46897380G>A	GRCh38
NC_000013.10:g.47471515G>A , CM000675.1:g.47471515G>A	GRCh37
NC_000013.9:g.46369516G>A	NCBI36
NG_013011.1:g.4655C>T

Transcript Alleles

HGVS	Amino-acid change
NM_001378924.1:c.-329+572C>T	NP_001365853.1:n.-329+572C>T

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